{{Rsnum
|rsid=121918375
|Chromosome=17
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=PYCR1
|position=81934670
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PYCR1
}}{{omim
|id=179035
|rsnum=121918375
|variant=0002
}}{{ClinVar
|rsid=121918375
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=79892546
|CHROM=17
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=PYCR1:5831
|GENE_NAME=PYCR1
|GENE_ID=5831
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000017.10:g.79892546C>A; NC_000017.10:g.79892546C>T
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=179035.0002; VAR_059072
|CLNSIG=5
|CLNCUI=C2751987
|CLNDBN=Autosomal recessive cutis laxa type 2B; not provided
|Disease=Autosomal recessive cutis laxa type 2B; not provided
|CLNACC=RCV000014079.23; RCV000059738.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2751987:612940:90350
}}{{PMID Auto
|PMID=19648921
|Title=Mutations in PYCR1 cause cutis laxa with progeroid features.
}}